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Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Blood cells, molecules & diseases - 1 Jan 2000

Vulliamy Tom J, Walne Amanda, Baskaradas Aroon, Mason Philip J, Marrone Anna, Dokal Inderjeet

Abstract excerpt

Human telomerase has two core components, the RNA molecule (TERC) that provides the template for telomere repeat elongation and a reverse transcriptase (TERT) that is responsible for the addition of telomere repeats at the ends of each chromosome. Mutations in TERC have been found in the autosomal-dominant form of the inherited bone marrow failure syndrome dyskeratosis congenita and in a subset of patients with...

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Identifiers

PMID: 15885610
DOI: 10.1016/j.bcmd.2004.12.008

Genes

TERT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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